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European Journal of Human Genetics : EJHG|March 15, 2024
Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysisEnrica Marchionni, Daniele Guadagnolo, Gioia Mastromoro, et al.
Diagnostics (Basel, Switzerland)|February 5, 2021
Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives-A Systematic ReviewDaniele Guadagnolo, Gioia Mastromoro, Francesca Di Palma, et al.
Diagnostics (Basel, Switzerland)|March 25, 2022
Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges-Systematic Review of the Literature and Meta-AnalysisGioia Mastromoro, Daniele Guadagnolo, Nader Khaleghi Hashemian, et al.
Annals of Human Genetics|June 2, 2021
External hydrocephalus as a prenatal feature of noonan syndromeGioia Mastromoro, Alessandro De Luca, Enrica Marchionni, et al.
BMC Ophthalmology|January 15, 2021
X-linked dominant RPGR gene mutation in a familial Coats angiomatosisMarcella Nebbioso, Federica Franzone, Alessandro Lambiase, et al.
Neuro-Degenerative Diseases|October 3, 2019
Unusual Segregation of APP Mutations in Monogenic Alzheimer DiseaseGioia Mastromoro, Stefano Gambardella, Enrica Marchionni, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 4, 2017
Unusual association of SCN2A epileptic encephalopathy with severe cortical dysplasia detected by prenatal MRISilvia Bernardo, Enrica Marchionni, Sabrina Prudente, et al.
The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|October 21, 2016
Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosisAntonella Giancotti, Valentina D'Ambrosio, Enrica Marchionni, et al.
ACG Case Reports Journal|August 14, 2023
Variable Intrafamilial Expression of ABCB4 DiseaseLucia Zampaglione, Anne-Laure Rougemont, Laura Rubbia-Brandt, et al.
Annals of Clinical and Translational Neurology|December 16, 2025
An Out-of-Place Etiology: Recognizing FMR1 Premutation in the Memory ClinicGuido Greco, Caterina Motta, Enrica Marchionni, et al.
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